Canonical Allele Identifier: CA2683842871

Gene: ASNS

Linked Data

• ClinVar Variation Id: 2701481
• ClinVar RCV Id: RCV003549692
• gnomAD v4: 7-97853285-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97853285C>T , CM000669.2:g.97853285C>T	GRCh38
NC_000007.13:g.97482597C>T , CM000669.1:g.97482597C>T	GRCh37
NC_000007.12:g.97320533C>T	NCBI36
NG_033870.1:g.24258G>A
NG_033870.2:g.80278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394308.8:c.1320+20G>A MANE Select	ENSP00000377845.3:n.1320+20G>A
ENST00000175506.8:c.1320+20G>A	ENSP00000175506.4:n.1320+20G>A
ENST00000394308.7:c.1320+20G>A	ENSP00000377845.3:n.1320+20G>A
ENST00000394309.7:c.1320+20G>A	ENSP00000377846.3:n.1320+20G>A
ENST00000422745.5:c.1257+20G>A	ENSP00000414901.1:n.1257+20G>A
ENST00000437628.5:c.1071+20G>A	ENSP00000414379.1:n.1071+20G>A
ENST00000444334.5:c.1257+20G>A	ENSP00000406994.1:n.1257+20G>A
ENST00000454046.5:c.*188+20G>A	ENSP00000401651.1:n.*188+20G>A
ENST00000455086.5:c.1071+20G>A	ENSP00000408472.1:n.1071+20G>A
ENST00000487714.1:n.378+20G>A
NM_001178075.1:c.1257+20G>A	NP_001171546.1:n.1257+20G>A
NM_001178076.1:c.1071+20G>A	NP_001171547.1:n.1071+20G>A
NM_001178077.1:c.1071+20G>A	NP_001171548.1:n.1071+20G>A
NM_001673.4:c.1320+20G>A	NP_001664.3:n.1320+20G>A
NM_133436.3:c.1320+20G>A	NP_597680.2:n.1320+20G>A
NM_183356.3:c.1320+20G>A	NP_899199.2:n.1320+20G>A
NM_001352496.1:c.1320+20G>A	NP_001339425.1:n.1320+20G>A
NR_147989.1:n.3023+20G>A
NM_001673.5:c.1320+20G>A MANE Select	NP_001664.3:n.1320+20G>A
NM_001178075.2:c.1257+20G>A	NP_001171546.1:n.1257+20G>A
NM_001178076.2:c.1071+20G>A	NP_001171547.1:n.1071+20G>A
NM_001352496.2:c.1320+20G>A	NP_001339425.1:n.1320+20G>A
NM_183356.4:c.1320+20G>A	NP_899199.2:n.1320+20G>A